AUTOMATED SEQUENCE VARIATION ANALYSIS SOFTWARE

自动DNA序列变异分析软件及数据的开发 提出了管理方案。该软件旨在分析二倍体 研究人群中患者的测序和甲基化分析样本 已经通过一些定义标准或与 感兴趣的疾病。该软件的目标是检测相对罕见的序列 变异或甲基化状态改变，当分析功能影响时 可以在统计上与感兴趣的表型相关。在这份第一阶段提案中， 我们建议扩展现有的数据库体系结构并开发前处理 软件将表征所有观察到的变化(包括移码)和 提供与观察到的变化出现在 样本。 建议的商业应用： 制药和生物技术行业预计将越来越 依赖于他们的药物开发努力，随时识别新的和 人类临床和其他研究人群中存在的多态性。这个 使用这笔拨款开发的软件在可靠性方面将变得至关重要 鉴定和分析二倍体基因组来源的多态。

Development of an automated DNA sequence variation analysis software and data management package is proposed. The software is aimed at analyzing diploid sequencing and methylation analysis samples from patients in a study population that have been stratified by some defining criteria or phenotype in relation to a disease of interest. The goal of the software is to detect relatively rare sequence variations or methylation state changes which when analyzed for functional effect can be statistically correlated with the phenotype of interest. In this Phase I proposal, we propose to extend an existing database architecture and develop pre-processing software that will characterize all observed variations (including frameshifts) and provide a score related to the likelihood that the observed variation is present in the sample. PROPOSED COMMERCIAL APPLICATION: The pharmaceutical and biotechnology industry is expected to become increasingly reliant in their drug development efforts on the ready identification of new and existing polymorphisms in clinical and other study populations of humans. The software developed using this grant will become centrally important in reliably identifying and assaying polymorphisms from diploid genomic sources.